Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog...

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Autores principales: Hsu, Shih-Wen, Lin, Chien-yio, Wang, Chuang-Wei, Chung, Wen-Hung, Yang, Chih-Hsun, Chang, Yao-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992485/
https://www.ncbi.nlm.nih.gov/pubmed/33911485
http://dx.doi.org/10.5021/ad.2018.30.5.597
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author Hsu, Shih-Wen
Lin, Chien-yio
Wang, Chuang-Wei
Chung, Wen-Hung
Yang, Chih-Hsun
Chang, Yao-Yu
author_facet Hsu, Shih-Wen
Lin, Chien-yio
Wang, Chuang-Wei
Chung, Wen-Hung
Yang, Chih-Hsun
Chang, Yao-Yu
author_sort Hsu, Shih-Wen
collection PubMed
description We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below.
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spelling pubmed-79924852021-04-27 Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor Hsu, Shih-Wen Lin, Chien-yio Wang, Chuang-Wei Chung, Wen-Hung Yang, Chih-Hsun Chang, Yao-Yu Ann Dermatol Case Report We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below. The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2018-10 2018-08-28 /pmc/articles/PMC7992485/ /pubmed/33911485 http://dx.doi.org/10.5021/ad.2018.30.5.597 Text en Copyright © 2018 The Korean Dermatological Association and The Korean Society for Investigative Dermatology http://creativecommons.org/licenses/by-nc/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hsu, Shih-Wen
Lin, Chien-yio
Wang, Chuang-Wei
Chung, Wen-Hung
Yang, Chih-Hsun
Chang, Yao-Yu
Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
title Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
title_full Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
title_fullStr Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
title_full_unstemmed Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
title_short Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
title_sort novel patched 1 mutations in patients with gorlin-goltz syndrome strategic treated by smoothened inhibitor
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992485/
https://www.ncbi.nlm.nih.gov/pubmed/33911485
http://dx.doi.org/10.5021/ad.2018.30.5.597
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